Xp21 deletion syndrome
Synonyms: Complex GKD | Complex glycerol kinase deficiency | Del(X)(p21) | Xp21 contiguous gene deletion syndrome | Xp21 microdeletion syndrome
A rare chromosomal anomaly characterized by complex glycerol kinase deficiency congenital adrenal hypoplasia intellectual disability and/or Duchenne muscular dystrophy that usually affect males. The clinical features depend on the deletion size and the number and type of involved genes.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version October 2023.
Newly diagnosed with
Xp21 deletion syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Adrenal Insufficiency United
Helping find resources and navigating the health system
Mississippi Metabolics Foundation
Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Adrenal Alternatives Foundation
Advocacy & Access for all cortisol care.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Rare Chromosome Disorder Support Group – Unique
To inform, support and alleviate the isolation of anyone affected by a rare chromosome or single gene disorder and to raise public awareness.
For a list of clinical trials in this disease area, please click here.